Full data view for gene SRXN1

Information The variants shown are described using the NM_080725.1 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.148A>G r.(?) p.(Ile50Val) g.633682T>C Copied from the Exome Variant Server SRXN1_000019 106/12854 98/8512 8/4342 - - - - - - -
?/? c.193C>T r.(?) p.(Leu65Phe) g.633637G>A Copied from the Exome Variant Server SRXN1_000018 1/12902 0/8538 1/4364 - - - - - - -
?/? c.210+21G>A r.(=) p.(=) g.633599C>T Copied from the Exome Variant Server SRXN1_000017 81/12774 60/8466 21/4308 - - - - - - -
?/? c.211-47C>T r.(=) p.(=) g.629608G>A Copied from the Exome Variant Server SRXN1_000016 1/13002 0/8600 1/4402 - - - - - - -
?/? c.211-17G>A r.(=) p.(=) g.629578C>T Copied from the Exome Variant Server SRXN1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.225C>T r.(=) p.(=) g.629547G>A Copied from the Exome Variant Server SRXN1_000014 5/13006 5/8600 0/4406 - - - - - - -
?/? c.238G>A r.(?) p.(Asp80Asn) g.629534C>T Copied from the Exome Variant Server SRXN1_000013 1/13004 0/8598 1/4406 - - - - - - -
?/? c.241G>A r.(?) p.(Val81Ile) g.629531C>T Copied from the Exome Variant Server SRXN1_000012 1/13004 0/8598 1/4406 - - - - - - -
?/? c.243C>T r.(=) p.(=) g.629529G>A Copied from the Exome Variant Server SRXN1_000011 1/13004 0/8598 1/4406 - - - - - - -
?/? c.266G>A r.(?) p.(Gly89Glu) g.629506C>T Copied from the Exome Variant Server SRXN1_000010 1/13004 1/8598 0/4406 - - - - - - -
?/? c.297C>T r.(=) p.(=) g.629475G>A Copied from the Exome Variant Server SRXN1_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.306C>T r.(=) p.(=) g.629466G>A Copied from the Exome Variant Server SRXN1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.309G>A r.(=) p.(=) g.629463C>T Copied from the Exome Variant Server SRXN1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.328C>T r.(?) p.(Arg110*) g.629444G>A Copied from the Exome Variant Server SRXN1_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.342C>T r.(=) p.(=) g.629430G>A Copied from the Exome Variant Server SRXN1_000005 2/13006 2/8600 0/4406 - - - - - - -
?/? c.343G>A r.(?) p.(Ala115Thr) g.629429C>T Copied from the Exome Variant Server SRXN1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.348G>A r.(=) p.(=) g.629424C>T Copied from the Exome Variant Server SRXN1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*1C>G r.(=) p.(=) g.629357G>C Copied from the Exome Variant Server SRXN1_000002 145/13006 1/8600 144/4406 - - - - - - -
?/? c.*49C>T r.(=) p.(=) g.629309G>A Copied from the Exome Variant Server SRXN1_000001 1/13006 0/8600 1/4406 - - - - - - -
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